Variant report

Variant	esv3431637
Chromosome Location	chr13:92223251-92225549
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:92009349..92012461-chr13:92224404..92227397,3	K562	blood:
2	chr13:92010873..92012565-chr13:92225020..92227817,2	K562	blood:
3	chr13:92196622..92200535-chr13:92219844..92223399,3	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576064482	chr13:92224824-92224825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10047728	chr13:92224828-92224829	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs563881608	chr13:92224830-92224831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561737871	chr13:92224837-92224838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139122504	chr13:92224878-92224879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547552987	chr13:92224910-92224911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540788192	chr13:92224911-92224912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs377599702	chr13:92224920-92224921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144154652	chr13:92225116-92225117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533254094	chr13:92225119-92225120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35204057	chr13:92225157-92225158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75714565	chr13:92225161-92225162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569625268	chr13:92225191-92225192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529529382	chr13:92225200-92225201	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs529215656	chr13:92225205-92225206	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs548991087	chr13:92225210-92225211	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs76882186	chr13:92225219-92225220	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs534843577	chr13:92225228-92225229	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs146019622	chr13:92225323-92225324	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs71427523	chr13:92225400-92225401	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs4773638	chr13:92225466-92225467	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs78344489	chr13:92225469-92225470	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs541868290	chr13:92225543-92225544	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92224800-92225200	Enhancers	NH-A	brain
2	chr13:92225200-92225600	Enhancers	Brain Substantia Nigra	brain
3	chr13:92225200-92225600	Flanking Active TSS	NH-A	brain

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